Researchers report in a current issue of Genome Medicine that a simple blood test is being developed that could help predict the likelihood of a woman developing breast cancer even in the absence of a high risk BRCA1 gene mutation. They identified a DNA methylation signature in the blood of women with both the inherited genetic mutation of the BRCA1 gene and also who developed non-hereditary cancer. In the study they used blood samples collected several years before breast cancer development in two large cohorts of women,. They said “We identified an epigenetic signature in women with a mutated BRCA1 gene that was linked to increased cancer risk and lower survival rates. Surprisingly, we found the same signature in large cohorts of women without the BRCA1 mutation and the test was able to predict breast cancer risk several years before diagnose.” They believe the epigenetic signature they found is consistent with the idea that changes in the epigenome of immune cells are key to cancer progression and may be responsible for silencing genes in immune cells that in turn could affect the ability of the immune system to prevent breast cancer. They said more research is needed but concluded “The data is encouraging since it shows the potential of a blood based epigenetic test to identify breast cancer risk in women without known predisposing genetic mutations.”
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